A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1398



Internal ID15544313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22528158..22556096hg38UCSC Ensembl
Outerchr18:20108121..20136059hg19UCSC Ensembl
Outerchr18:18362119..18390057hg18UCSC Ensembl
Outerchr18:18362119..18390057hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387478
hg197478
hg187478
hg177478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2224
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv1398
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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